Oto-palato-digital syndrome, type I
- Synonyms
- OPD I SYNDROME; OPD syndrome; OPD syndrome 1; Oto-palato-digital syndrome type 1; Otopalatodigital Syndrome, Type I; Taybi syndrome
- Modes of inheritance
- X-linked dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- References
- Chapter Notes
- Authors:
- Stephen Robertson
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (91 available)
Clinical features
Help- Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Downslanted palpebral fissures
Downslanted palpebral fissures
- MedGen UID: 98391
- Concept ID: C0423110
- Finding: Finding
Abnormality of head or neck
- Flat face
Flat face
- MedGen UID: 342829
- Concept ID: C1853241
- Finding: Finding
Abnormality of head or neck
- Narrow mouth
Narrow mouth
- MedGen UID: 44435
- Concept ID: C0026034
- Finding: Congenital Abnormality
Abnormality of head or neck
- Prominent supraorbital ridges
Prominent supraorbital ridges
- MedGen UID: 333982
- Concept ID: C1842060
- Finding: Finding
Abnormality of head or neck
- Selective tooth agenesis
Selective tooth agenesis
- MedGen UID: 370882
- Concept ID: C1970308
- Finding: Congenital Abnormality
Abnormality of head or neck
- Short nose
Short nose
- MedGen UID: 343052
- Concept ID: C1854114
- Finding: Finding
Abnormality of head or neck
- Wide nasal bridge
Wide nasal bridge
- MedGen UID: 341441
- Concept ID: C1849367
- Finding: Finding
Abnormality of head or neck
- Cleft palate
- Abnormality of limbs
- Abnormality of the fifth metatarsal bone
Abnormality of the fifth metatarsal bone
- MedGen UID: 870291
- Concept ID: C4024733
- Finding: Anatomical Abnormality
Abnormality of limbs
- Accessory carpal bones
Accessory carpal bones
- MedGen UID: 120549
- Concept ID: C0265609
- Finding: Congenital Abnormality
Abnormality of limbs
- Bipartite calcaneus
Bipartite calcaneus
- MedGen UID: 320639
- Concept ID: C1835574
- Finding: Finding
Abnormality of limbs
- Broad distal phalanx of finger
Broad distal phalanx of finger
- MedGen UID: 342551
- Concept ID: C1850630
- Finding: Finding
Abnormality of limbs
- Broad distal phalanx of the thumb
Broad distal phalanx of the thumb
- MedGen UID: 350887
- Concept ID: C1863402
- Finding: Finding
Abnormality of limbs
- Broad hallux
Broad hallux
- MedGen UID: 401165
- Concept ID: C1867131
- Finding: Finding
Abnormality of limbs
- Bulbous tips of toes
Bulbous tips of toes
- MedGen UID: 871262
- Concept ID: C4025747
- Finding: Anatomical Abnormality
Abnormality of limbs
- Coxa valga
Coxa valga
- MedGen UID: 116080
- Concept ID: C0239137
- Finding: Finding
Abnormality of limbs
- Dislocated radial head
Dislocated radial head
- MedGen UID: 488814
- Concept ID: C0265563
- Finding: Congenital Abnormality
Abnormality of limbs
- Limited elbow extension
Limited elbow extension
- MedGen UID: 401158
- Concept ID: C1867103
- Finding: Finding
Abnormality of limbs
- Limited knee flexion
Limited knee flexion
- MedGen UID: 326514
- Concept ID: C1839512
- Finding: Finding
Abnormality of limbs
- Sandal gap
Sandal gap
- MedGen UID: 374376
- Concept ID: C1840069
- Finding: Finding
Abnormality of limbs
- Short 3rd metacarpal
Short 3rd metacarpal
- MedGen UID: 338089
- Concept ID: C1850631
- Finding: Finding
Abnormality of limbs
- Short 4th metacarpal
Short 4th metacarpal
- MedGen UID: 327074
- Concept ID: C1840309
- Finding: Finding
Abnormality of limbs
- Short 5th metacarpal
Short 5th metacarpal
- MedGen UID: 348858
- Concept ID: C1861388
- Finding: Finding
Abnormality of limbs
- Short distal phalanx of finger
Short distal phalanx of finger
- MedGen UID: 326590
- Concept ID: C1839829
- Finding: Finding
Abnormality of limbs
- Short hallux
Short hallux
- MedGen UID: 400890
- Concept ID: C1865992
- Finding: Finding
Abnormality of limbs
- Toe syndactyly
Toe syndactyly
- MedGen UID: 75581
- Concept ID: C0265660
- Finding: Congenital Abnormality
Abnormality of limbs
- Abnormality of the fifth metatarsal bone
- Abnormality of the ear
- Conductive hearing impairment
Conductive hearing impairment
- MedGen UID: 9163
- Concept ID: C0018777
- Finding: Disease or Syndrome
Abnormality of the ear
- Conductive hearing impairment
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Hypertelorism
- Abnormality of the integument
- Nail dysplasia
Nail dysplasia
- MedGen UID: 331737
- Concept ID: C1834405
- Finding: Congenital Abnormality
Abnormality of the integument
- Nail dystrophy
Nail dystrophy
- MedGen UID: 66368
- Concept ID: C0221260
- Finding: Disease or Syndrome
Abnormality of the integument
- Nail dysplasia
- Abnormality of the musculoskeletal system
- Absent frontal sinuses
Absent frontal sinuses
- MedGen UID: 343405
- Concept ID: C1855669
- Finding: Finding
Abnormality of the musculoskeletal system
- Capitate-hamate fusion
Capitate-hamate fusion
- MedGen UID: 346488
- Concept ID: C1857002
- Finding: Finding
Abnormality of the musculoskeletal system
- Congenital omphalocele
Congenital omphalocele
- MedGen UID: 162756
- Concept ID: C0795690
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Delayed closure of the anterior fontanelle
Delayed closure of the anterior fontanelle
- MedGen UID: 825928
- Concept ID: C3840083
- Finding: Finding
Abnormality of the musculoskeletal system
- Femoral bowing
Femoral bowing
- MedGen UID: 347888
- Concept ID: C1859461
- Finding: Finding
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hip dislocation
Hip dislocation
- MedGen UID: 42455
- Concept ID: C0019554
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Lateral femoral bowing
Lateral femoral bowing
- MedGen UID: 401070
- Concept ID: C1866737
- Finding: Finding
Abnormality of the musculoskeletal system
- Malar flattening
Malar flattening
- MedGen UID: 347616
- Concept ID: C1858085
- Finding: Finding
Abnormality of the musculoskeletal system
- Pectus excavatum
Pectus excavatum
- MedGen UID: 781174
- Concept ID: C2051831
- Finding: Finding
Abnormality of the musculoskeletal system
- Prominent occiput
Prominent occiput
- MedGen UID: 381255
- Concept ID: C1853737
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Synostosis of carpal bones
Synostosis of carpal bones
- MedGen UID: 322856
- Concept ID: C1836193
- Finding: Finding
Abnormality of the musculoskeletal system
- Thick skull base
Thick skull base
- MedGen UID: 326511
- Concept ID: C1839507
- Finding: Finding
Abnormality of the musculoskeletal system
- Absent frontal sinuses
- Abnormality of the nervous system
- Intellectual disability, mild
Intellectual disability, mild
- MedGen UID: 10044
- Concept ID: C0026106
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability, mild
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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